Sunday, May 22, 2011

Owen

I've been putting off writing this one for a while. Not because I am avoiding it, but because it is important and I want to get it right. I want to introduce my son, Owen. He's loving, smart, and happy, and a fantastic big brother to his sister. He's a skinny little guy who runs around as Batman, as a tiger, as "Booboo Fett", or, like today, with a tool belt and lego blocks, building. Of our three children, he's the most easygoing, and the most relaxed in temperment.

He's also got some major issues.

When he was a baby he had a difficulty with latching. He would get sweaty and stiff while nursing or eating, but none of the doctors were particularly concerned with this, so no alarm bells sounded. He nursed well, (and often) and progressed through the first year with only a few minor bumps along the way. Following the experts advice, when he turned a year old it was time to give up the boob, and grow into bottles and sippy cups.

He really liked cake at his 2yr birthday party.

Though we thought it was a little odd that every bottle we tried he rejected, and that he didn't seem to understand how to work a sippy cup, we eventually found a happy medium in a bottle with free flowing cow's milk, and an altered (read: butchered) sippy cup. It required no head tipping or suction to have access to fluid. We waited patiently for his first words. Would he call for Daddy in the middle of the night, or would it be Mommy? No, it was 'Ba'. He progressed relatively normally through baby foods, but then stumbled on solids. While that was difficult, it was nothing compared to what was to come. One by one, all the foods we had successfully introduced were no longer accepted, and in exasperation when he was three, we took him in to the doctor. At that point he would only eat oatmeal and apple sauce, and was losing weight.

The nutritionalist at BGH gave us some advice that at the time I'm sure seemed good, to supplement his intake with protein and fat by adding more milk. That, after six months was a dismal failure, and nearing four years old, he was still only 30 pounds. Jenn, my wonderful wife, went on a year-long journey through casein intolerance, gluten intolerance, foods that give essential vitamins and minerals, and deconstructing diets from the ground up to find out how to get things into our little guy. She started the journey that has taken us here, of cleverly disguising foods in other foods. Boosting the nutritional balance of every acceptable food is normal in our house. Cake is never cake, it is always loaded with vegetables, protein and healthy fats.

Jenn began researching autism with intensity, fearing the worst. From the beginning, most of his therapists and doctors thought he was on the autism spectrum.

Family and friends, even, at first, agreed. He would get overheated, and sweaty, just like when he was feeding as a baby, and would just go ballistic. He would have screaming, and tense meltdowns where he would dissolve into tears and look at us as if to say "what's happening to me?" We had no answers.

We did have clues. Last year we broke it down symptom by symptom, and with our new ally in Quinte Pediatrics, Dr. Dempsey, we found several things that could be physically done before following an autism diagnosis. Metabolics. Teeth. Adenoids. Neurology.

We looked at the physical things first, which meant having several painful teeth looked at, the source of his early morning waking patterns. Dr. Dempsey in the meantime tested his blood, urine, and everything else necessary to rule out metabolic disorders.

The specialist in pediatric dentistry in Kingston temporarily capped his painful, hypoplastic (or to the layman, soft) teeth, after berating Jenn for an hour, suggested it was her fault. She then went on to say the pain was most likely a result of his autism.

That didn't even make any sense.

We fought. With Dr. Dempsey on our side, we got Owen into Kingston General to have his adenoids out. This helped with the sleep apnea, and swallowing, and also paved the way for getting the rotten teeth out. Small miracles, while there our anesthesiologist, Dr. Stidham (who is also in pediatrics) helped us with a neurology referral. His dedication was beyond admirable, and we felt blessed to have such a great team.

Next, Sick Kids Hospital in Toronto, where they explained the hypoplasia of the teeth happens in the womb, and has nothing to do with how we fed him. Dr. Michael Casas was very informative, and we felt good about having him do the work himself. In the meantime, Dr. John Wu in Dentistry helped us on a New Year's day visit that we had him called in for. I'm sure he had better things to do but we were very grateful for his work, which allowed Owen another month of some solids before his big surgery. Soon after, they pulled two rotten teeth, and filled another one. He began eating some solid foods again. In fact, that first day, he devoured a full box of ritz crackers in the van on the way home, nearly crying as he did so.

Still, it didn't solve all his issues. He still was not eating properly, and not gaining weight as a result. To this day he is still only 33 lbs, but holding there. We started him on supplements that are gluten and casein free, that give all the daily nutrition needed for a little guy, and we've seen a huge improvement. Jenn is now the master of hiding foods in other foods, with pumpkin raspberry broccoli popsicles, and smoothies with everything in them but the kitchen sink.

Some of our therapists still said it could be autism, and we always took the opinion that if it was autism, then it just was. It didn't change our little guy, and we would accept it if other things were ruled out. But when it came right down to it, we just didn't agree.

Here is why.

Owen routinely makes eye contact and is empathetic. He understands social situations very well, and engages in imaginative play. The other indicators of his condition, the sleep apnea, the pain, the meltdowns, have all lessened since we got certain things out of his diet. He still isn't toilet trained, but that seems a motor control issue, and not behavioural. He's still sensitive to sounds, and textures, but hell, so am I at nearly 40 years old.

Autism just didn't fit with any of the research, and from the outset we wanted to rule other things out before accepting it.

Our next step was the Department of Genetics at Sick Kids where they tested him for genetic disorders.

In the meantime Dr. Dempsey continued his tireless work on our behalf. We cannot say enough about his team at Quinte Pediatrics. He points us in all the right directions, informing our choices, following our reasoning in questioning some results, and accepting others. He has been an invaluable ally, and words cannot express how much we appreciate his skills and his approachable, guy-next-door attitude. We have 'lucked into' a friend who knows what we're going through and also has the skills to help us.

Genetics has now turned out to be one of our big breaks. The test results, just coming back now, are that Owen has a triplication on Chromosome 11 of his DNA, which is not just rare, but unique. In a database that Jenn contacted in the UK (for people whose children have genetic disorders), there is nobody else in the world who has that triplication. Of course, before even getting the results, Jenn has researched that chromosome, and deletions, duplications and triplications on it can indicate a condition known as ectodermal displasia, or pertaining to disruption of the epidermis - nails, teeth, hair, inner ear (balance) and most importantly, the Central Nervous System. Microarray analysis of the DNA is new science, and not fully understood, but this condition can lead to problems of all sorts in balance, motor control, eating, and pretty much anything to do with everyday life.

We go back to Sick Kids in Toronto in June to find out what exactly that means, and what it explains, but for now we are keeping our fingers crossed. We can only stay patient, and we make sure he gets the basic thing he needs. Food, love, warmth, and understanding.

Owen is a wonderful and inspiring little boy. Don’t forget to give yourselves some much deserved kudos as well – so much of this progress is thanks to the determination of you and Jenn to get to the bottom of things. Engaged parents can make a world of difference!